Article
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Frontiers in immunology - 1 Jan 2023
Ferré Elise M N, Yu Yunting, Oikonomou Vasileios, Hilfanova Anna, Lee Chyi-Chia R, Rosen Lindsey B, Burbelo Peter D, Vazquez Sara E, Anderson Mark S, Barocha Amisha, Heller Theo, Soldatos Ariane, Holland Steven M, Walkiewicz Magdalena A, Lionakis Michail S
Abstract excerpt
Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in AIRE and heterozygous pathogenic variants in FAM111B, respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more...
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